| 单词 | Disease,Fumarylacetoacetase Deficiency |
| 释义 | Disease,Fumarylacetoacetase Deficiency《英文msh词典》Disease,Fumarylacetoacetase Deficiency [入口词] Disease,Fumarylacetoacetase Deficiency [主题词] Tyrosinemias [英文释义] A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness,self-mutilation,hepatic necrosis,renal tubular injury,and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation,painful corneal ulcers,and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes,Textbook of Child Neurology,5th ed,pp42-3) |
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